Exome Sequencing and Complex Disease: Practical Aspects of Rare Variant Association Studies

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Exome Sequencing and Complex Disease: Practical Aspects of Rare Variant Association Studies

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Title: Exome Sequencing and Complex Disease: Practical Aspects of Rare Variant Association Studies
Author: Kathiresan, Sekar; Abecasis, Gonçalo R.; Do, Ron

Note: Order does not necessarily reflect citation order of authors.

Citation: Do, Ron, Sekar Kathiresan, and Gonçalo R. Abecasis. 2012. Exome sequencing and complex disease: Practical aspects of rare variant association studies. Human Molecular Genetics 21(R1): R1-R9.
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Abstract: Genetic association and linkage studies can provide insights into complex disease biology, guiding the development of new diagnostic and therapeutic strategies. Over the past decade, genetic association studies have largely focused on common, easy to measure genetic variants shared between many individuals. These common variants typically have subtle functional consequence and translating the resulting association signals into biological insights can be challenging. In the last few years, exome sequencing has emerged as a cost-effective strategy for extending these studies to include rare coding variants, which often have more marked functional consequences. Here, we provide practical guidance in the design and analysis of complex trait association studies focused on rare, coding variants.
Published Version: doi:10.1093/hmg/dds387
Other Sources: http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3459641
Terms of Use: This article is made available under the terms and conditions applicable to Other Posted Material, as set forth at http://nrs.harvard.edu/urn-3:HUL.InstRepos:dash.current.terms-of-use#LAA
Citable link to this page: http://nrs.harvard.edu/urn-3:HUL.InstRepos:10436263
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